A cost-benefit analysis of prenatal screening for toxoplasmosis.

The objective of this study was to examine critically the validity of a toxoplasma prenatal screening program, in the context of a cost-benefit analysis, as it relates to the Canadian experience. Recently, studies have suggested that early treatment of infected infants with a combination of pyrimethamine and sulfadiazine is effective in reducing the sequelae of toxoplasmosis. It was concluded that a carefully planned screening program for detecting and treating infants infected with Toxoplasma gondii during pregnancy is cost beneficial. The cost of delivering a screening and treatment program is less than half of what it would cost to provide comprehensive long term medical, educational and other social services for the estimated 1000 children born each year with congenital toxoplasmosis. Even if an incidence as low as two infected infants per 1000 pregnancies is assumed and only 400 children were affected, the screening and preventive therapy program would be justified.

Gastric torsion.

We report a seven-week-old baby girl with a one-day history of vomiting and respiratory distress. The radiological findings were those of intrathoracic mesenteroaxial torsion of the stomach complicating a large hiatus hernia which included part of the small bowel and colon with partial colonic obstruction. This is a rare but important cause of alimentary tract obstruction and respiratory distress in infants. Prompt diagnosis and correction are vital.

Duplication 9q34 syndrome.

Phenotypic, karyotypic, and developmental homology between affected children of carriers of an inverted insertion (9) (q22.1q34.3q34.1) led to recognition of a new chromosome syndrome: dup 9q34. Individuals with dup 9q34 have slight psychomotor retardation, understand simple directions, and acquire a limited vocabulary. In childhood, many are hyperactive. Clinical features include low birth weight, normal birth length, and initial poor feeding and thriving. Musculo-skeletal systems are affected: there are joint contractures, long thin limbs, and striking arachnodactyly. There is abnormal implantation of the thumb, increased space between the first and second fingers, and excess digital creases. Marfan syndrome was a provisional diagnosis for several cases prior to cytogenetic analysis. Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, microphthalmia, prominent nasal bridge, small mouth, thin upper lip with down-turned corners, and slight retrognathia. In older children, retrognathia is diminished and the nose becomes long and narrow. The new culture and chromosome banding techniques enable sorting of cases with the distal dup 9q phenotype into two groups. The cases with a longer dup 9q are more likely to develop with life-threatening congenital anomalies. The cases with the shorter dup 9q34 have a less severe long-term prognosis and will benefit, together with their parents, from special education. Female carriers of the inv ins(9) (q22.1q34.3q34.1) have about a 31% risk in each pregnancy to conceive a fetus affected by the dup 9q34 syndrome. A comparable figure is not yet available for male carriers.